Thalassemia: An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
Endpoint definition
↥Report an error or suggest an improvement for this endpoint codes
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
557745 |
1. Apply sex-specific ruleNone |
557745 |
2. Check conditionsNone |
557745 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters: 2 out of 7 registries used, show all original rules. |
- |
4. Check minimum number of eventsNone |
- |
5. Include endpoints |
161 |
6. Filter based on genotype QC (FinnGen only) |
53 |
Control definitions (FinnGen only)
- Control exclude
- D3_HAEMOLYTICANAEMIA
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- D55-D59
- Name in latin
- Thalassaemia
Similar endpoints
↥List of similar endpoints to
Thalassaemia
based on the number of shared cases.
Similar with more cases:
- Haemolytic anaemias
- Anaemias
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
- Any event in hilmo or specialist outpatient
Similar with less cases:
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2202 | 1071 | 915 |
| Only index persons | 1582 | 880 | 702 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.03 | 0.03 |
| Only index persons | 0.03 | 0.03 | 0.03 |
| Median age at first event (years) | |||
| Whole population | 22.71 | 25.67 | 17.00 |
| Only index persons | 28.37 | 29.61 | 26.82 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 53 | 27 | 26 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 51.80 | 52.29 | 51.29 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
No data
CodeWAS
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 145
- Matched controls
- 1450
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
D56.0
ICD-10 Finland
Alpha thalassaemia
+∞
52.3
47
*
D56.3
ICD-10 Finland
Thalassaemia trait
+∞
42.9
39
*
D56.99
ICD-10 Finland
Thalassaemia, unspecified
+∞
37.1
34
*
D56.1
ICD-10 Finland
Beta thalassaemia
+∞
31.4
29
*
D56.91
ICD-10 Finland
Thalassemia minor
+∞
29.1
27
*
Z31.5
ICD-10 Finland
Genetic counselling
7.5
20.0
33
55
D64.9
ICD-10 Finland
Anaemia, unspecified
5.9
14.8
30
61
D56.2
ICD-10 Finland
Delta-beta thalassaemia
+∞
13.8
13
*
D50.9
ICD-10 Finland
Iron deficiency anaemia, unspecified
6.2
13.3
25
47
D56
ICD-10 Finland
Thalassaemia
+∞
11.6
11
*
O99.0
ICD-10 Finland
Anaemia complicating pregnancy, childbirth and the puerperium
19.8
11.0
16
9
R5430
NOMESCO Finland
Interpreter's services
59.1
9.8
11
*
D01
ICPC
Abdominal pain/cramps general
3.4
8.6
38
138
O99.1
ICD-10 Finland
Other diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium
95.4
8.5
9
*
D50.8
ICD-10 Finland
Other iron deficiency anaemias
35.5
8.2
10
*
D56.8
ICD-10 Finland
Other thalassaemias
+∞
7.3
7
*
Z04.8
ICD-10 Finland
Examination and observation for other specified reasons
3.4
6.8
27
91
JN1AE
NOMESCO Finland
Ultrasound examination of upper part of abdomen
3.9
6.7
21
60
D02
ICPC
Abdominal pain epigastric
4.5
6.6
17
42
A02BD07
ATC
lansoprazole, amoxicillin and clarithromycin; systemic
6.8
6.4
15
24
LabWAS
↥OMOP Concept
People with measurements
Mean N measurements
Mean measured value
(ID) Name
N Cases
N Controls
OR
-log10(p)
cases
controls
cases
controls
unit
-log10(p)
N cases
N controls
61
180
5.12
20.20
2.8
2.5
2.31
2.35
g/l
0.23
56
168
64
199
4.97
19.82
2.8
2.5
15.07
13.89
umol/l
0.41
57
189
82
326
4.49
18.12
3.1
2.1
3.47
2.65
mg/l
2.09
71
283
27
53
6.03
13.77
6.9
5.2
93.70
93.21
%
0.04
27
53
113
673
4.08
12.06
9.6
3.1
115.94
85.37
ug/l
1.28
108
637
23
51
5.17
10.19
1.8
1.7
57.57
9.73
u/ml
—
8
10
24
60
4.60
9.21
1.6
1.9
—
—
—
0
0
83
466
2.83
8.64
2.2
1.9
102.33
96.11
pmol/l
0.68
51
240
41
157
3.25
8.55
1.9
1.6
1023.93
1162.98
nmol/l
0.36
28
123
97
604
2.83
8.05
11.8
7.1
15.12
12.28
umol/l
0.76
92
581
107
735
2.74
6.76
18.8
10.2
4.05
4.16
e9/l
0.16
87
644
57
293
2.56
6.69
8.9
2.6
—
—
—
0
0
16
27
6.52
6.52
2.8
2.5
—
—
—
0
0
42
198
2.58
5.79
4.2
3.5
1.34
0.94
e6/l
0.25
18
108
26
96
3.08
5.63
20.0
12.5
25.45
24.97
mmol/l
0.26
26
96
77
482
2.27
5.56
12.8
8.9
1.21
1.22
mmol/l
0.28
72
455
33
141
2.74
5.50
2.4
1.7
—
—
—
0
0
59
334
2.29
5.38
4.7
3.5
0.38
0.39
e6/l
0.02
37
249
17
49
3.80
5.36
1.6
1.6
0.11
0.01
iu/ml
—
6
9
39
184
2.53
5.33
4.3
3.7
1.71
2.97
e6/l
0.75
14
95
81
533
2.18
5.00
13.9
8.9
1.21
1.21
mmol/l
0.06
71
466
40
198
2.41
4.90
2.5
1.9
—
—
—
0
0
54
306
2.22
4.82
1.5
1.6
20.90
21.24
nmol/l
0.06
47
270
15
44
3.69
4.60
1.3
2.0
—
—
—
0
0
24
96
2.80
4.49
1.5
1.5
—
—
—
0
0
24
97
2.77
4.41
1.5
1.5
0.91
1.11
ratio
0.63
12
60
24
97
2.77
4.41
1.5
1.5
0.94
0.99
ratio
0.39
12
60
24
97
2.77
4.41
1.5
1.5
1.46
1.21
ratio
0.65
12
60
7
6
12.17
4.32
4.3
4.0
—
—
—
0
0
7
6
12.17
4.32
4.3
4.0
—
—
—
0
0
19
68
3.06
4.31
1.5
1.4
—
—
—
0
0
30
139
2.46
4.20
2.6
1.8
—
—
—
0
0
78
533
2.00
4.08
3.4
2.8
63.84
72.89
nmol/l
1.97
72
488
47
267
2.12
4.08
6.0
2.4
1.16
1.16
mg/l
0.00
32
201
69
459
1.96
3.83
9.4
6.1
36.64
36.37
g/l
0.13
64
442
8
13
6.44
3.55
1.7
6.4
115.50
98.85
%
—
8
13
28
138
2.28
3.40
11.2
9.7
105.29
104.51
mmol/l
0.44
28
138
10
23
4.59
3.38
2.3
1.4
—
—
—
0
0
82
595
1.87
3.36
7.6
3.0
—
—
estimate
—
0
0
6
7
8.87
3.29
2.2
1.1
—
—
—
0
0
13
40
3.47
3.24
1.2
1.7
—
—
—
0
0
89
668
1.86
3.22
8.8
6.2
6.45
6.29
mmol/l
0.35
80
610
11
32
3.63
2.97
2.2
1.3
—
—
—
0
0
7
13
5.60
2.90
1.3
1.0
—
—
—
0
0
6
9
6.89
2.89
1.2
1.0
—
—
—
0
0
12
39
3.26
2.85
1.3
1.7
144.00
136.37
au/ml
—
5
14
137
1236
2.96
2.83
23.6
14.1
22.73
22.21
mg/l
0.06
117
980
126
1088
2.21
2.70
20.1
12.8
97.44
92.43
ml/min/173m2
1.42
114
973
(40770918) von Willebrand factor (vWf).activity actual/normal in Platelet poor plasma by Immunoassay
5
7
7.34
2.57
1.2
2.7
130.40
124.00
%
—
5
7
11
38
3.05
2.47
2.7
1.6
—
—
—
0
0
11
39
2.97
2.40
3.0
1.5
—
—
—
0
0
8
22
3.78
2.40
3.1
1.7
—
—
—
0
0
7
18
4.03
2.28
7.1
1.4
—
—
—
0
0
59
423
1.67
2.27
5.0
3.7
27.83
31.26
u/l
0.80
59
404
40
259
1.75
2.22
3.5
3.2
352.61
335.01
umol/l
0.47
33
238
39
253
1.74
2.15
3.9
3.6
582.35
1298.01
ng/l
1.46
32
213
114
979
1.77
2.10
5.5
4.3
14.50
14.64
pmol/l
0.21
108
906
5
10
5.13
2.09
4.2
3.0
—
—
—
0
0
12
50
2.53
2.08
7.7
5.0
1.20
1.53
%
0.47
12
50
12
51
2.48
2.01
7.7
4.9
0.63
0.62
%
0.01
12
51
56
407
1.61
2.00
1.6
1.9
—
—
—
0
0
7
21
3.45
1.99
2.9
1.6
—
—
—
0
0
8
28
2.96
1.89
2.8
1.6
—
—
—
0
0
16
80
2.12
1.88
23.8
8.7
24.56
24.27
mmol/l
0.18
16
80
5
12
4.27
1.84
1.0
1.3
—
—
—
0
0
6
18
3.43
1.76
2.5
1.4
—
—
—
0
0
104
889
1.60
1.76
5.1
4.2
11.83
9.34
mm/h
1.09
98
826
41
284
1.62
1.75
5.6
4.0
18.51
14.04
mg/mmol
0.15
28
187
5
14
3.66
1.63
1.0
1.4
—
—
—
0
0
5
14
3.66
1.63
1.0
1.4
—
—
—
0
0
5
14
3.66
1.63
1.0
1.4
—
—
—
0
0
5
14
3.66
1.63
1.0
1.3
—
—
—
0
0
5
15
3.41
1.53
1.0
1.3
—
—
—
0
0
126
1146
1.76
1.49
6.5
5.1
1.86
1.82
mu/l
0.13
121
1081
11
52
2.21
1.48
3.5
1.5
—
—
—
0
0
6
22
2.80
1.45
2.0
1.5
—
—
—
0
0
6
22
2.80
1.45
2.0
1.5
—
—
—
0
0
6
22
2.80
1.45
2.5
2.7
17.67
15.78
%
—
6
22
5
17
3.01
1.37
1.4
1.5
—
—
—
0
0
20
123
1.73
1.32
1.4
1.5
—
—
—
0
0
15
85
1.85
1.28
1.4
1.4
219.28
273.90
miu/ml
—
9
44
82
692
1.43
1.28
4.7
4.0
0.00
0.00
estimate
-0.00
13
149
81
685
1.41
1.23
4.6
3.9
0.00
0.00
estimate
-0.00
15
153
34
244
1.51
1.23
1.7
1.3
15.11
29.74
iu/ml
—
9
67
6
26
2.36
1.20
1.0
1.1
—
—
—
0
0
10
50
2.07
1.19
1.9
1.3
—
—
—
0
0
80
678
1.40
1.19
4.7
3.9
0.00
0.00
estimate
-0.00
15
156
5
20
2.55
1.16
1.0
1.4
—
—
—
0
0
7
30
2.40
1.14
4.6
2.6
—
—
—
0
0
119
1091
1.51
1.08
4.3
4.0
5.84
5.68
mmol/l
0.42
113
1009
5
22
2.32
1.04
1.4
1.4
—
—
—
0
0
7
35
2.05
1.01
1.1
1.3
—
—
—
0
0
9
52
1.78
0.94
1.1
1.2
—
7.28
—
0
5
15
95
1.65
0.91
7.7
6.8
—
—
—
0
0
14
87
1.67
0.91
1.4
1.0
—
—
—
0
0
6
29
2.11
0.90
1.2
1.2
—
2.72
—
0
13
8
44
1.86
0.87
1.1
1.1
—
15.06
—
0
7
12
73
1.70
0.84
1.8
1.5
—
—
—
0
0
0
26
0.00
0.79
0.0
2.1
—
—
—
0
0
7
38
1.88
0.75
1.3
1.2
—
—
—
0
0
5
25
2.03
0.73
1.2
1.1
—
—
—
0
0
45
372
1.30
0.72
4.5
3.5
38.58
36.09
ng/l
0.05
32
217
10
61
1.69
0.70
1.1
1.3
—
—
—
0
0
106
1133
0.76
0.70
4.3
4.1
1.35
1.43
mmol/l
1.22
99
1071
5
27
1.88
0.69
1.6
1.2
1.60
4.92
u/ml
—
5
12
7
44
1.62
0.66
2.1
2.3
—
—
—
0
0
16
114
1.45
0.62
4.3
3.4
—
—
—
0
0
5
30
1.69
0.62
1.0
1.3
—
—
—
0
0
28
221
1.33
0.61
1.5
1.3
2.30
5.10
u/ml
1.09
11
89
46
391
1.26
0.59
1.6
1.4
0.43
1.59
u/ml
—
6
97
6
39
1.56
0.53
1.7
1.1
—
—
—
0
0
26
208
1.30
0.53
4.0
3.3
43.51
425.74
ng/l
1.30
16
133
12
84
1.47
0.51
3.0
1.4
11.18
16.33
iu/l
0.34
12
72
109
1147
0.80
0.50
4.8
4.5
2.62
2.73
mmol/l
0.72
102
1083
14
102
1.41
0.49
3.1
1.3
126.94
374.43
u/ml
0.55
14
96
7
47
1.51
0.48
2.3
2.3
—
—
—
0
0
108
1136
0.81
0.48
4.3
4.2
4.40
4.59
mmol/l
1.26
102
1076
98
1039
0.82
0.46
6.5
5.0
38.39
37.54
mmol/mol
0.32
91
986
116
1105
1.25
0.45
36.7
17.5
319.98
333.71
g/l
18.06
116
1100
109
1032
1.23
0.45
4.1
3.8
—
—
—
0
0
100
1057
0.83
0.44
3.9
3.6
1.23
1.23
mmol/l
0.02
92
991
24
195
1.28
0.44
2.3
1.7
407.31
66857580.36
pmol/l
0.50
16
175
5
31
1.63
0.43
1.4
1.2
0.00
0.00
g/l
—
5
31
0
16
0.00
0.41
0.0
1.4
—
—
—
0
0
0
16
0.00
0.41
0.0
1.1
—
—
—
0
0
0
19
0.00
0.39
0.0
1.9
—
16.61
—
0
19
6
41
1.48
0.36
1.7
1.1
—
—
—
0
0
6
44
1.38
0.35
1.3
1.3
—
14.37
—
0
7
5
39
1.29
0.23
1.2
1.5
—
—
—
0
0
0
10
0.00
0.21
0.0
4.7
—
0.50
—
0
10
(3016894) Varicella zoster virus DNA [Presence] in Cerebral spinal fluid by NAA with probe detection
0
12
0.00
0.21
0.0
1.3
—
—
—
0
0
0
13
0.00
0.21
0.0
1.0
—
129.39
—
0
13
47
500
0.91
0.17
4.1
3.6
0.00
0.01
estimate
0.50
13
132
37
396
0.91
0.15
3.7
3.2
0.00
0.00
estimate
-0.00
12
128
17
190
0.88
0.14
2.2
2.1
—
—
—
0
0
39
367
1.09
0.12
2.3
2.5
—
—
—
0
0
10
85
1.19
0.12
3.3
1.3
—
—
—
0
0
36
338
1.09
0.12
2.1
2.3
—
—
—
0
0
6
74
0.80
0.08
1.3
2.0
—
—
—
0
0
9
88
1.02
0.07
1.0
1.7
—
—
—
0
0
23
244
0.93
0.07
1.7
1.5
—
—
—
0
0
11
100
1.11
0.05
1.7
1.3
—
—
—
0
0
35
360
0.96
0.03
3.7
3.9
0.00
0.01
estimate
0.50
14
146
22
224
0.98
0.00
2.4
2.2
—
—
—
0
0
28
285
0.98
0.00
3.4
3.6
1.02
1.02
kg/l
0.46
12
192
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.5
—
10.47
—
0
6
0
6
0.00
0.00
0.0
1.0
—
—
—
0
0
0
6
0.00
0.00
0.0
2.5
—
4.71
—
0
6
0
8
0.00
-0.00
0.0
2.4
—
17.84
—
0
8
0
7
0.00
-0.00
0.0
3.3
—
41.86
—
0
7
0
8
0.00
-0.00
0.0
1.1
—
79.75
—
0
8
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.6
—
56.50
—
0
5
0
8
0.00
-0.00
0.0
1.3
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.0
—
—
—
0
0
0
8
0.00
-0.00
0.0
1.1
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.4
—
2.81
—
0
5
0
5
0.00
-0.00
0.0
1.4
—
—
—
0
0
0
9
0.00
-0.00
0.0
1.3
—
48.11
—
0
9
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
0
5
0.00
-0.00
0.0
1.2
—
—
—
0
0
Mortality – FinRegistry
↥Association
Association between endpoint D3_THALASSAEMIA and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_THALASSAEMIA | 1.665 [1.07, 2.6] | 0.025 |
| Birth year | 0.996 [0.99, 1.0] | 0.362 |
During the follow-up period (1.1.1998 — 31.12.2019), 55 out of 893 females with D3_THALASSAEMIA died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| D3_THALASSAEMIA | 1.673 [1.12, 2.49] | 0.011 |
| Birth year | 0.989 [0.98, 1.0] | 0.034 |
During the follow-up period (1.1.1998 — 31.12.2019), 56 out of 775 males with D3_THALASSAEMIA died.
Mortality risk
Mortality risk for people of age
years, who have D3_THALASSAEMIA.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.131% | 0.315% |
| 5 | 0.927% | 2.064% |
| 10 | 2.551% | 5.115% |
| 15 | 4.743% | 9.437% |
| 20 | 8.614% | 16.314% |
Relationships between endpoints
↥Index endpoint: D3_THALASSAEMIA – Thalassaemia
GWS hits: -
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
rg [CI]
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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